Rare Chromosomal Fragile Sites Flashcards Preview

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Flashcards in Rare Chromosomal Fragile Sites Deck (30):
1

What are examples of Group 1 RFS?

- Folate Sensitive.

2

What are examples of Group 2 RFS?

- Dystamycin A Inducible.

3

What are examples of Group 3 RFS?

- BrdU requiring.

4

Features of Fragile X Syndrome?

- Mental retardation,
- Dysmorphic features.
- Behaviour problems.

5

What are the phenotypes of Fragile X Syndrome?

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6

What is the genetics of Fragile X Syndrome?

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7

What is the Sherman Paradox?

- Non mendelian.

8

What is the cytogenetics of Fragile X syndrome?

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9

What is the repeat expansion in Fragile X Syndrome families?

- Premutation.
- Full mutation.

10

What is the relationship between FRAXA CCG copy number and instability?

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11

What symptoms do FRAXA premutation carriers exhibit?

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12

How many copies do premutation carriers have?

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13

What is the molecular basis of the sherman paradox?

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14

Define founder effect.

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15

Define founder chromosome.

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16

What is the evidence of founder chromosomes in Fragile X Syndrome?

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17

Common pathway of repeat expansion?

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18

What are the properties of the unstable CCG trinucleotide repeat?

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19

How does FRAXA CCG mutation lead to the inactivation of the FMR1 gene?

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20

What is FMRP?

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21

Funciton of FMRP?

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22

How does loss of FMR1 gene function result in Fragile X Syndrome?

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23

MPEP: Pharmological rescue experiment.

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24

True or False?
CBL2 (p(CCG)n is expanded in FRA16D individuals?

False. FRA11B individuals.

25

What fragile site is associated with jacobson syndrome?

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26

What is FRA16A due to?

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27

WHat are examples of non-folate sensitive rare fragile sites?

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28

FRA16B fragile site is due to _____ expansions.

Very large.

29

What have studies on FRA10B shown?

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30

What are the mechanisms of dynamic mutation? What is the evidence?

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